Hematological and Molecular Findings in the First Case of Hb J-Norfolk [HBA2: c.173GA (or HBA1] in an Indian Patient
| Autor: | Sona B. Nair, Prochi F. Madon, Arundhati S. Athalye, Partha Sarathi Das, Firuza R. Parikh |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Hemoglobin J Heterozygote Chromatography Chemistry Hemoglobins Abnormal Biochemistry (medical) Clinical Biochemistry Indian population Electrophoresis Capillary India Hematology High-performance liquid chromatography 03 medical and health sciences Young Adult 030104 developmental biology Capillary electrophoresis alpha-Globins Humans Female Cellulose acetate electrophoresis Hemoglobin Population screening Genetics (clinical) Chromatography High Pressure Liquid |
| Zdroj: | Hemoglobin. 42(5-6) |
| ISSN: | 1532-432X |
| Popis: | We here report a case of a 23-year-old female from Mumbai, Maharashtra, India who was detected to carry the α chain variant Hb J-Norfolk [HBA2: c.173G>A (or HBA1]. She had no clinical symptoms and was referred to us for routine investigations and screening. An abnormal peak was detected on both high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) with a fast-moving band on cellulose acetate electrophoresis. There is no detailed study on the HPLC and CE pattern of this hemoglobin (Hb) variant, and therefore, this study will help in detecting and avoiding missing these variants during routine investigations and population screening. This is the first report of this variant in the Indian population. |
| Databáze: | OpenAIRE |
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